Lymphoproliferative Syndrome 1 (LPFS1)

Lymphoproliferative Syndrome 1, also known as lymphoproliferative syndrome, ebv-associated, autosomal, 1, is related to lymphoproliferative syndrome, x-linked, 1 and optic disc anomalies with retinal and/or macular dystrophy. An important gene associated with Lymphoproliferative Syndrome 1 is ITK (IL2 Inducible T Cell Kinase), and among its related pathways/superpathways are Cell adhesion_Plasmin signaling and IL12 signaling mediated by STAT4. Affiliated tissues include bone marrow and t cells, and related phenotypes are splenomegaly and hepatomegaly